SLC2A4: Polycystic Ovarian Syndrome Database

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SLC2A4

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

SLC2A4

Aliases

GLUT4

Entrez Gene ID

6517

Gene Name

Solute carrier family 2 member 4

Chromosomal Location

17p13.1

HGNC ID

HGNC:11009

Summary

This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_012127.1

RefSeq mRNA

NM_001042.3

e!Ensembl

Gene	ENSG00000181856, ENSG00000288174
Transcript	ENST00000317370, ENST00000572485, ENST00000571308, ENST00000570783, ENST00000424875, ENST00000673224, ENST00000672821, ENST00000671706, ENST00000673275, ENST00000672921
Protein	ENSP00000320935, ENSP00000461086, ENSP00000459864, ENSP00000459056, ENSP00000396887, ENSP00000499804, ENSP00000500577, ENSP00000500752, ENSP00000500807, ENSP00000499993

Gene Ontology (GO)

Show/Hide all(15 )

GO ID	Ontology	Function	Evidence	Reference
GO:0005975	Biological process	Carbohydrate metabolic process	TAS	2649253
GO:0032869	Biological process	Cellular response to insulin stimulus	IBA	21873635
GO:0032869	Biological process	Cellular response to insulin stimulus	IDA	12556481
GO:0042593	Biological process	Glucose homeostasis	IDA	14562105, 17003346
GO:0046323	Biological process	Glucose import	NAS	11742412
GO:1904659	Biological process	Glucose transmembrane transport	TAS	12556481
GO:0005886	Cellular component	Plasma membrane	IDA	12556481, 19590752
GO:0009897	Cellular component	External side of plasma membrane	IDA	14562105
GO:0012506	Cellular component	Vesicle membrane	IDA	14562105
GO:0016020	Cellular component	Membrane	TAS	2649253
GO:0030136	Cellular component	Clathrin-coated vesicle	IDA	19478182
GO:0032593	Cellular component	Insulin-responsive compartment	IDA	19590752
GO:0048471	Cellular component	Perinuclear region of cytoplasm	IDA	12556481, 14562105, 19590752
GO:0005355	Molecular function	Glucose transmembrane transporter activity	TAS	2649253
GO:0005515	Molecular function	Protein binding	IPI	19478182, 25910212

Protein Information

Protein Name

Solute carrier family 2, facilitated glucose transporter member 4, GLUT-4, glucose transporter type 4, insulin-responsive, insulin-responsive glucose transporter type 4, solute carrier family 2 (facilitated glucose transporter), member 4

Function

Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell

Refseq Proteins

NP_001033.1

UniProt

P14672

Pfam

Pfam Accession	Pfam ID
PF00083	Sugar_tr

Pathways
	KEGG	Reactome
	FoxO signaling pathway AMPK signaling pathway Insulin signaling pathway Adipocytokine signaling pathway Type II diabetes mellitus Insulin resistance	Cellular hexose transport Transcriptional regulation of white adipocyte differentiation

Interactions

STRING	MINT	IntAct
ENSP00000473348		O95479

View interactions

Associated Diseases

Show/Hide all(2 )

Disease group	Disease Name	References
Endocrine System Diseases
	Diabetes Mellitus	1756912, 1918382, 1521731, 22384078, 11947963, 17107852
	PCOS	29752839, 15292352
Psychiatric/Brain disorders
	Senile Dementia	24055495
	Alzheimer Disease	24055495
	Obstructive Sleep Apnea	25176209, 28219664, 24410986

References

Show/Hide all(5)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
20011249	IR	Hyperinsulinemic		Rotterdam criteria, Androgen Excess Society criteria	Related	7 hyperinsulinemic PCOS,7 normoinsulinemic PCOS and 7 control	The diminished expression of GLUT4, as well as the lower level of pIRS-1Y612 and pAS160T642 exhibited by PCOSE-HI, suggests a disruption in the translocation of vesicles with GLUT4 to the cell surface in these patients.
20406953	FOXO1 and PPARG	Hyperinsulinemic			Related	7 PCOS and 7 control	Derepression of PPARG transcription by the high levels of p-FOXO1Ser319 could partially account for the lower levels of SLC2A4 found in PCOSE h-Ins
15731326					Related	18 PCOS and 9 controls	endometrial GLUT4 expression is not affected by PCOS itself, whereas it is reduced by obesity in PCOS patients
15292352	IR and n-INS			PCOS was diagnosed with a combination of these clinical, biological, and ultrasonographic parameters: 1) oligomenorrhea (seven or fewer menstrual periods in the previous year); 2) hirsutism (hormonal score > 10 by the Ferriman-Gallwey modified method); 3)	Related	8 Lean and 10 obese Normoinsulineamic PCOS,9 lean and 8 obese hyperinsulinemic and 9 control	GLUT4 is present in the endometrium of normal and PCOS subjects and that hyperinsulinism and obesity seem to have a negative effect on endometrial GLUT4 expression in PCOS
23493574	IRS,P13K,AKT, MIR93, MIR133, MIR223, PTEN	PCOS, insulin resistance, hyperinsulinemia, type 2 diabetes mellitus (T2DM), and cardiovascular disease		National Institute of Health (1990) criteiria	Related	20 control and 21 PCOS	Overexpression of miR-93 resulted in downregulation of GLUT4 gene expression in adipocytes through direct targeting of the GLUT4 3'UTR, while inhibition of miR-93 activity led to increased GLUT4 expression. These results point to a novel mechanism for regulating insulin-stimulated glucose uptake via miR-93 and demonstrate upregulated miR-93 expression in all PCOS, and in non-PCOS women with IR, possibly accounting for the IR of the syndrome. In contrast, miR-133 and miR-223 may have a different, although yet to be defined, role in the IR of PCOS.

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